C57BL/6N-Npc1tm1a(EUCOMM)Hmgu/H
Status | Available to order |
EMMA ID | EM:04739 |
International strain name | C57BL/6N-Npc1tm1a(EUCOMM)Hmgu/H |
Alternative name | HEPD0534_4_G05 |
Strain type | Targeted Mutant Strains |
Allele/Transgene symbol | Npc1tm1a(EUCOMM)Hmgu, |
Gene/Transgene symbol | Npc1 |
Disclaimer | Please note that for EUCOMM and KOMP-CSD mice supplied to the scientific community by INFRAFRONTIER/EMMA:
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Information from provider
Provider | MRC, Medical Research Council |
Provider affiliation | Mammalian Genetics Unit, Mary Lyon Centre at MRC Harwell |
Genetic information | This mouse line originates from EUCOMM ES clone HEPD0534_4_G05. For further details on the construction of this clone see the page at the IMPC portal. |
Phenotypic information | Potential phenotyping data in the IMPC portal |
References | None available |
Information from EMMA
Archiving centre | Mary Lyon Centre at MRC Harwell, Oxford, United Kingdom |
Animals used for archiving | heterozygous C57BL/6NTac |
Breeding at archiving centre | Chimeras were mated to C57BL/6N Tac USA, and maintained on this background thereafter. |
Disease and phenotype information
Orphanet associated rare diseases, based on orthologous gene matching
- Niemann-Pick disease type C, late infantile neurologic onset / Orphanet_216978
- Niemann-Pick disease type C, adult neurologic onset / Orphanet_216986
- Niemann-Pick disease type C, severe early infantile neurologic onset / Orphanet_216975
- Niemann-Pick disease type C, juvenile neurologic onset / Orphanet_216981
- Niemann-Pick disease type C, severe perinatal form / Orphanet_216972
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